Article
[DNA diagnosis of Leber's hereditary optic neuropathy].
Nippon Ganka Gakkai zasshi - 1 Jul 1990
Mashima Y, Oguchi Y, Uemura Y, Kudoh J, Sakai K, Shimizu N
Abstract excerpt
The point mutation at nt11778 in mitochondrial DNA is highly associated with Leber's hereditary optic neuropathy and eliminates a restriction enzyme SfaNI site in American blacks and Caucasians. DNA diagnosis was applied to a male Japanese patient with this disorder and his mother as a carrier. T...
Topics
- Adult
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Humans
- Male
- Mutation
- Optic Atrophies, Hereditary
- Polymerase Chain Reaction